Search our Database of Scientific Publications and Authors

I’m looking for a

    1840 results match your criteria Pseudohypoparathyroidism

    1 OF 37

    Metabolic Syndrome in Parathyroid Diseases.
    Front Horm Res 2018 5;49:67-84. Epub 2018 Apr 5.
    Parathyroid glands are the main regulator of body mineral metabolism through parathormone (PTH) actions on bone and kidney. Experimental evidence suggests that PTH may have non-classical target organs such as adipose tissue, arterial vascular wall, cardiac muscle cells, and adrenal cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism. Read More

    [Pseudohypoparathyroidism: report of two cases of late presentation].
    Rev Med Chil 2018 Jan;146(1):116-121
    Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
    Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). Read More

    Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.
    Case Rep Endocrinol 2018 22;2018:7813591. Epub 2018 Jan 22.
    Department of Internal Medicine, Hospital de Chaves, Centro Hospitalar de Trás-os-Montes e Alto Douro, Chaves, Portugal.
    Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype.

    Materials And Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.

    Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c. Read More

    Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?
    J Pediatr 2018 Apr 23. Epub 2018 Apr 23.
    Section of Pediatric Endocrinology and Diabetology, Riley Hospital for Children, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN; Division of Endocrinology & Metabolism, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN.
    The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Read More

    Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
    J Bone Miner Res 2018 Apr 25. Epub 2018 Apr 25.
    INSERM U1169 and Paris Sud Paris-Saclay University, Bicêtre Paris Sud Hospital, Le Kremlin Bicêtre, France.
    Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to parathyroid hormone (PTH) resistance, PHP1A and PHP1B patients may display early-onset obesity. Read More

    Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.
    Best Pract Res Clin Endocrinol Metab 2018 Apr 31;32(2):141-154. Epub 2018 Jan 31.
    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:
    Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D). In this group of diseases, resistance to hormones such as PTH, TSH, gonadotropins and GHRH may be variably present, so that the clinical and molecular overlap among these different but related disorders represents a challenge for endocrinologists as to differential diagnosis and genetic counseling. Read More

    Disease-Causing Mutations in the G Protein Gαs Subvert the Roles of GDP and GTP.
    Cell 2018 May 5;173(5):1254-1264.e11. Epub 2018 Apr 5.
    Department of Cellular and Molecular Pharmacology and Howard Hughes Medical Institute, University of California-San Francisco, San Francisco, CA 94158, USA; Department of Chemistry, University of California-Berkeley, Berkeley, CA 94720, USA. Electronic address:
    The single most frequent cancer-causing mutation across all heterotrimeric G proteins is R201C in Gαs. The current model explaining the gain-of-function activity of the R201 mutations is through the loss of GTPase activity and resulting inability to switch off to the GDP state. Here, we find that the R201C mutation can bypass the need for GTP binding by directly activating GDP-bound Gαs through stabilization of an intramolecular hydrogen bond network. Read More

    Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism.
    Clin Endocrinol (Oxf) 2018 Jun 3;88(6):838-847. Epub 2018 Apr 3.
    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus C, Denmark.
    Objective: Nonsurgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Read More

    What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
    BMC Med Genet 2018 Mar 2;19(1):32. Epub 2018 Mar 2.
    Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, OSI Araba University Hospital, C/ Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
    Background: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. Read More

    Painful subcutaneous nodules on the thigh.
    Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.
    Department of Dermatology, Mount Sinai Health System, New York, New York.
    Osteoma cutis is the presence of bone within the dermis or subcutaneous tissue. This condition may occur sporadically or secondary to other dermatologic or genetic conditions. We present a 12-year-old girl with pseudohypoparathyroidism type-Ia who developed osteoma cutis on the right thigh. Read More

    Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism.
    Horm Res Paediatr 2018 16;89(3):178-183. Epub 2018 Feb 16.
    Department of Pediatrics, Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
    Background/aims: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied.

    Methods: We enrolled children aged 6-18 years with PHP and matched controls. Read More

    Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.
    Clin Epigenetics 2018 6;10:16. Epub 2018 Feb 6.
    1Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Via Francesco Sforza, 35-20122 Milan, Italy.
    Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous data confirmed the existence of different degrees of methylation defects associated with PHP1B and suggested the presence of mosaicism, a phenomenon already described in the context of other IDs. Read More

    Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.
    J Assist Reprod Genet 2018 Feb 7. Epub 2018 Feb 7.
    Pediatric Endocrinology, Mercy Hospital St. Louis, St. Louis, MO, USA.
    Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and hyperparathyroid bone changes. PHP1B is an imprinting disorder that results from loss of methylation at the maternal GNAS gene, which suppresses transcription of the alpha subunit of the stimulatory G protein of the PTH receptor. Emerging evidence supports an association between assisted reproductive technologies (ART) and imprinting disorders; however, there is currently little evidence linking PHP1B and ART. Read More

    Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.
    Cureus 2017 Nov 26;9(11):e1878. Epub 2017 Nov 26.
    Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine.
    Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. Read More

    (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
    J Endocr Soc 2018 Jan 21;2(1):9-23. Epub 2017 Nov 21.
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
    Context: Pseudohypoparathyroidism type I (PHP-I) is divided into PHP-Ia with Albright hereditary osteodystrophy and PHP-Ib, which usually shows no Albright hereditary osteodystrophy features. Although PHP-Ia and PHP-Ib are typically caused by genetic defects involving subunit of the stimulatory G protein (Gs)-coding exons and methylation defects of the differentially methylated regions (DMRs) on the maternal allele, respectively, detailed phenotypic characteristics still remains to be examined.

    Objective: To clarify phenotypic characteristics according to underlying (epi)genetic causes. Read More

    A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.
    Cytogenet Genome Res 2017 11;153(3):125-130. Epub 2018 Jan 11.
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
    Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Read More

    The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.
    Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):92-97
    Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.
    Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. Read More

    Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
    J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):58-68. Epub 2017 Dec 27.
    Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey.
    Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. Read More

    Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients.
    J Bone Miner Res 2018 Apr 3;33(4):743-752. Epub 2018 Jan 3.
    Department of Endocrinology, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences (CAMS), Beijing, China.
    Bone responsiveness to serum parathyroid hormone (PTH) in pseudohypoparathyroidism 1B (PHP1B) is controversial. Forty-eight PHP1B patients diagnosed by molecular analysis were recruited from 2000 to 2016 from the Peking Union Medical College Hospital. Fifty-five sex-matched nonsurgical hypoparathyroidism (NS-HP) patients were selected and included for comparison. Read More

    Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.
    Am J Med Genet A 2018 Feb 28;176(2):283-289. Epub 2017 Nov 28.
    Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.
    Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. Read More

    The dental manifestations and orthodontic implications of hypoparathyroidism in childhood.
    J Orthod 2018 Mar 30;45(1):46-50. Epub 2017 Nov 30.
    a a Department of Orthodontics , University Dental Hospital of Manchester , Manchester , UK.
    The presence of short dental roots can present challenges to the orthodontist both in terms of identifying its aetiology and in subsequent treatment planning. Uncommon causes include hypoparathyroidism and pseudohypoparathyroidism, where short roots may be seen in combination with other oral manifestations including enamel hypoplasia secondary to low calcium levels. This case report highlights these features and the orthodontic treatment proposed. Read More

    Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
    Clin Endocrinol (Oxf) 2018 Feb 14;88(2):285-294. Epub 2017 Dec 14.
    Key Laboratory of Endocrinology of National Health and Family Planning Commission, Department of Endocrinology, Peking Union Medical College (PUMC) Hospital, Chinese Academy of Medical Sciences (CAMS), Beijing, China.
    Background: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B and familial 1B.

    Objectives: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population. Read More

    Minerva Endocrinol 2018 Jun 10;43(2):156-167. Epub 2017 Nov 10.
    Department of Surgery and Translational Medicine, University of Florence, Florence, Italy -
    The term pseudohypoparathyroidism (PHP) refers to a spectrum of rare disorders of mineral metabolism, characterized by features due to end-organ resistance to PTH. The phenotypes of Albright hereditary osteodystrophy (AHO), originally described as associated to the disease, and progressive osseous heteroplasia, can be associated to the endocrine manifestations of hormonal resistance. Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity. Read More

    Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study.
    J Bone Miner Res 2018 Mar 30;33(3):467-477. Epub 2017 Nov 30.
    Department of Endocrinology and Internal Medicine, Tage-Hansens Gade (THG), Aarhus University Hospital, Aarhus, Denmark.
    Nonsurgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP) are both rare diseases, characterized by hypocalcemia. In Ns-HypoPT, PTH levels are low, whereas patients with PHP often have very high levels due to receptor-insensitivity to PTH (PTH-resistance). Accordingly, we hypothesized that indices of bone turnover and bone mineralization/architecture are similar in Ns-HypoPT and PHP despite marked differences in PTH levels. Read More

    Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.
    J Clin Endocrinol Metab 2018 01;103(1):158-168
    Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
    Context: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the parental origin of the mutated allele, patients develop either pseudohypoparathyroidism type 1A (PHP1A), with multihormone resistance and severe obesity, or pseudopseudohypoparathyroidism (PPHP), without hormonal abnormalities or marked obesity. Subcutaneous ossifications (SCOs) are a source of substantial morbidity in both PHP1A and PPHP. Read More

    Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.
    J Pediatr Endocrinol Metab 2017 Oct;30(10):1125-1132
    Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). Read More

    GNAS mutations and heterotopic ossification.
    Bone 2018 Apr 6;109:80-85. Epub 2017 Sep 6.
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, United States. Electronic address:
    GNAS is a complex imprinted gene encoding the alpha-subunit of the stimulatory heterotrimeric G protein (Gsα). GNAS gives rise to additional gene products that exhibit exclusively maternal or paternal expression, such as XLαs, a large variant of Gsα that shows exclusively paternal expression and is partly identical to the latter. Gsα itself is expressed biallelically in most tissues, although the expression occurs predominantly from the maternal allele in a small set of tissues, such as renal proximal tubules. Read More

    Endocrinological and phenotype evaluation in a patient with acrodysostosis.
    Clin Pediatr Endocrinol 2017 27;26(3):177-182. Epub 2017 Jul 27.
    Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
    Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in or are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with mutations. Read More

    A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
    Bone 2017 Oct 12;103:281-286. Epub 2017 Jul 12.
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:
    GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified allele. Pseudohypoparathyroidism type Ia (PHP1A) is characterized by Albright's Hereditary Osteodystrophy (AHO) and resistance to multiple hormones; this disorder is caused by maternal inactivating mutations involving Gαs exons. Read More

    Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.
    Bone 2017 Oct 8;103:177-187. Epub 2017 Jul 8.
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
    The murine Gnas (human GNAS) locus gives rise to Gαs and different splice variants thereof. The Gαs promoter is not methylated thus allowing biallelic expression in most tissues. In contrast, the alternative first Gnas/GNAS exons and their promoters undergo parent specific methylation, which limits transcription to the non-methylated allele. Read More

    Hypothyroidism associated with parathyroid disorders.
    Best Pract Res Clin Endocrinol Metab 2017 03 15;31(2):161-173. Epub 2017 Apr 15.
    Endocrinology Service, Department of Biomedical Sciences, University of Milan, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy. Electronic address:
    Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders. Read More

    Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
    Paediatr Int Child Health 2017 Jun 26:1-4. Epub 2017 Jun 26.
    c Endocrinology Unit, Department of Pediatrics , Centro Hospitalar Lisboa Central, EPE , Lisbon , Portugal.
    Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1. Read More

    Incidence of parathyroid disorders in Indian adult male population: A 25-year follow-up study.
    Clin Endocrinol (Oxf) 2017 Nov 24;87(5):605-608. Epub 2017 Jul 24.
    Department Pediatrics, Army Hospital (Research and Referral), Delhi, India.
    Context And Objective: Detailed information on the epidemiology of parathyroid disorders in India is lacking. Most of the available data pertain to primary hyperparathyroidism (PHPT) rather than the overall burden of parathyroid disorders. We studied the incidence of parathyroid disorders in a cohort of service personnel followed for a long duration. Read More

    [The mouth of patients with hypo- and pseudohypoparathyroidism].
    Presse Med 2017 Sep 6;46(9):838-844. Epub 2017 May 6.
    Université de Lille 2, Lille, France. Electronic address:
    Chronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease. Read More

    Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.
    J Clin Endocrinol Metab 2017 08;102(8):2670-2677
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
    Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities, they are considered distinct clinical entities. Read More

    [Regulatory mechanism of calcium metabolism.]
    Clin Calcium 2017;27(4):483-490
    Department of Pediatrics Osaka University Graduate School of Medicine, Japan.
    It is often difficult for terrestrial animals to take enough calcium. To maintain serum or extracellular calcium levels is very important for muscle and nerve function. Two major regulators to increase the serum calcium levels are parathyroid hormone(PTH)and vitamin D. Read More

    Multiple miliary osteoma cutis of the face associated with Albright hereditary osteodystrophy in the setting of acne vulgaris: a case report.
    Dermatol Online J 2017 Mar 15;23(3). Epub 2017 Mar 15.
    Department of Internal Medicine, University of Central Florida College of Medicine, Orlando Florida.
    Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2]. Read More

    Progressive Development of PTH Resistance in Patients With Inactivating Mutations on the Maternal Allele of GNAS.
    J Clin Endocrinol Metab 2017 06;102(6):1844-1850
    Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France.
    Context: Parathormone (PTH) resistance is characterized by hypocalcaemia, hyperphosphatemia, and elevated PTH in the absence of vitamin D deficiency. Pseudohypoparathyroidism type 1A [PHP1A, or inactivating parathormone (PTH)/PTHrp signaling disorder 2, according to the new classification (iPPSD2)], is caused by mutations in the maternal GNAS allele.

    Objective: To assess PTH resistance over time in 20 patients affected by iPPSD2 (PHP1A), diagnosed because of family history, ectopic ossification, or short stature, and carrying a GNAS mutation. Read More

    Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.
    Medicine (Baltimore) 2017 Mar;96(11):e6312
    Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.
    Rationale: Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium.

    Patient Concerns And Diagnoses: A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. Read More

    Role of DNA methylation in imprinting disorders: an updated review.
    J Assist Reprod Genet 2017 May 9;34(5):549-562. Epub 2017 Mar 9.
    Department of Clinical Pharmacy, School of Pharmacy, Tanta University, Tanta, 31512, Gharbia, Egypt.
    Genomic imprinting is a complex epigenetic process that contributes substantially to embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the whole genome undergoes imprinting. Imprinted genes are expressed in a monoallelic parent-of-origin-specific manner, which means that only one of the two inherited alleles is expressed either from the paternal or maternal side. Read More

    Femoral neck's fracture in Fahr's Syndrome: case report.
    Clin Cases Miner Bone Metab 2016 Sep-Dec;13(3):265-267. Epub 2017 Feb 10.
    Orthopaedics and Traumatology Department, University of Palermo, Palermo, Italy.
    Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail. During post-operative rehabilitation therapists's patient management was difficult due to obvious extrapyramidal symptoms characterized by dysarthria, rigidity, bradykinesia, postural instability. Read More

    Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
    Parkinsonism Relat Disord 2017 Apr 27;37:1-10. Epub 2016 Dec 27.
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:
    Introduction: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. Read More

    1 OF 37